Canonical Allele Identifier: CA10608019
Gene: GJA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 292450
dbSNP Id: rs782580208
COSMIC: COSM395111

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147758886C>T , CM000663.2:g.147758886C>T GRCh38
NC_000001.10:g.147230994C>T , CM000663.1:g.147230994C>T GRCh37
NC_000001.9:g.145697618C>T NCBI36
NG_009369.2:g.19489G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000579774.3:c.353G>A MANE Select ENSP00000463851.1:p.Arg118Gln
ENST00000430508.1:c.353G>A ENSP00000407645.1:p.Arg118Gln
ENST00000579774.2:c.353G>A ENSP00000463851.1:p.Arg118Gln
ENST00000621517.1:c.353G>A ENSP00000484552.1:p.Arg118Gln
NM_005266.6:c.353G>A NP_005257.2:p.Arg118Gln
NM_181703.3:c.353G>A NP_859054.1:p.Arg118Gln
XM_005272951.3:c.353G>A XP_005273008.1:p.Arg118Gln
XM_011509415.1:c.353G>A XP_011507717.1:p.Arg118Gln
XR_922078.1:n.434-18675C>T
XR_922079.1:n.434-18675C>T
XM_005272951.4:c.353G>A XP_005273008.1:p.Arg118Gln
XM_017001044.1:c.353G>A XP_016856533.1:p.Arg118Gln
XR_922079.3:n.744-18675C>T
NM_181703.4:c.353G>A MANE Select NP_859054.1:p.Arg118Gln
NM_005266.7:c.353G>A NP_005257.2:p.Arg118Gln